gap junction protein beta 4
Última atualização 18 de ago de 2020
Atende aos diretrizes editoriais
- BaixarBaixar
- Compartilhar
- Language
- Discussão
- Versão em Áudio
- Adicionar às fontes preferidas no Google
A GJB4 gene provides instructions for making a protein called gap junction beta 4, more commonly known as connexin 30.3. This protein is part of the connexin family, a group of proteins that form channels called gap junctions on the surface of cells. Gap junctions open and close to regulate the flow of nutrients, charged atoms (ions), and other signaling molecules from one cell to another. They are essential for direct communication between neighboring cells.
Normal function
A GJB4 gene provides instructions for making a protein called gap junction beta 4, more commonly known as connexin 30.3. This protein is part of the connexin family, a group of proteins that form channels called gap junctions on the surface of cells. Gap junctions open and close to regulate the flow of nutrients, charged atoms (ions), and other signaling molecules from one cell to another. They are essential for direct communication between neighboring cells.
Connexin 30.3 is found in several different tissues, including the outermost layer of the skin (the epidermis). This protein appears to play a role in the growth and maturation of epidermal cells.
Conditions referring to this gene or chromosome
Other names
connexin 30.3
connexin-30.3
CX30.3
CXB4_HUMAN
EKV
gap junction beta-4 protein
gap junction protein, beta 4, 30.3kDa
Related patient information and medicines
Patient information leaflet
Miastenia gravis
Myasthenia gravis (MG) is a condition where muscles become easily tired and weak. It is due to a problem with how the nerves stimulate the muscles to tighten (contract). Un... There is a tiny gap between the ends of the nerves and the surface of the muscle. This gap is called the neuromuscular junction (see diagram below). The brain sends messages.
Patient information leaflet
Posso tomar Shiitake e Turkey tail juntos?
Both are medicinal fungi that are often taken together to support th... Why this happens Both mushrooms contain bioactive compounds called beta-glucans. These work in a similar way to support immune function without interfering with how the body processes the other. General Food Intake These medicinal mushrooms contain complex polysaccharides.
Patient information leaflet
Posso tomar Royal sun e White button juntos?
Both Royal Sun (Agaricus blazei) and White Button mushrooms contain compounds that may lower blood sugar levels. General Food Intake These medicinal mushrooms contain complex polysaccharides (beta-glucans). Our Verificador de Interações de Medicamentos helps you check whether your prescriptions, over-the-counter medicines, e suplementos are safe to take.
Patient information leaflet
Posso tomar Royal sun e Shiitake juntos?
Both Royal Sun (Agaricus blazei) and Shiitake (Lentinula edodes) mushrooms contain high levels of beta-glucans, which are substances that stimulate the immune system. Taking them together may cause your immune system to become overactive. Always consult your GP, pharmacist, or another qualified healthcare professional before making decisions a....
Patient information leaflet
Posso tomar Royal sun e Turkey tail juntos?
Both Royal Sun (Agaricus blazei) and Turkey Tail (Trametes versicolor) are medicinal mushrooms that can stimulate the immune system. Taking them together may lead to an overactive immune response. Aviso Legal This information is for general educational purposes only e should not be relied upon as a substitute for professional medical advice..
Patient information leaflet
Posso tomar Turkey tail e White button juntos?
There are no known negative interactions between Turkey Tail (Trametes versicolor) and White Button mushrooms (Agaricus bisporus). Why this happens Both mushrooms contain bioactive compounds called polysaccharides (such as beta-glucans). R... General Food Intake These medicinal mushrooms contain complex polysaccharides (beta-glucans). Disclaimer.
Leitura adicional e referências
- gap junction protein beta 4; MedlinePlus, National Library of Medicine.
- Macari F, Landau M, Cousin P, Mevorah B, Brenner S, Panizzon R, Schorderet DF, Hohl D, Huber M. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. Am J Hum Genet. 2000 Nov;67(5):1296-301. doi: 10.1016/S0002-9297(07)62957-7. Epub 2000 Oct 3.
- Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. J Invest Dermatol. 2003 Apr;120(4):601-9. doi: 10.1046/j.1523-1747.2003.12080.x.
- Sbidian E, Bousseloua N, Jonard L, Leclerc-Mercier S, Bodemer C, Hadj-Rabia S. Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis. Acta Derm Venereol. 2013 Mar 27;93(2):193-5. doi: 10.2340/00015555-1436. No abstract available.
- Scott CA, O'Toole EA, Mohungoo MJ, Messenger A, Kelsell DP. Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis. Clin Exp Dermatol. 2011 Jan;36(1):88-90. doi: 10.1111/j.1365-2230.2010.03945.x.
- van Steensel MA, Oranje AP, van der Schroeff JG, Wagner A, van Geel M. The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. Am J Med Genet A. 2009 Feb 15;149A(4):657-61. doi: 10.1002/ajmg.a.32744.
- Yoshikata-Isokawa Y, Itoh M, Nakagawa H. Japanese sporadic case of erythrokeratodermia variabilis caused by the connexin-30.3 (GJB4) mutation: Is Glycine 12 a mutational hotspot in the connexin family? J Dermatol. 2016 Jul;43(7):830-1. doi: 10.1111/1346-8138.13277. Epub 2016 Jan 30. No abstract available.
Participe da conversa
Compartilhe seus pensamentos ou experiências com outros em nosso comunidades de pacientes.
Pergunte, compartilhe, conecte-se.
Navegue por discussões, faça perguntas e compartilhe experiências em centenas de tópicos de saúde.
Inscreva-se no boletim informativo do Patient
Sua dose semanal de conselhos de saúde claros e confiáveis - escritos para ajudá-lo a se sentir informado, confiante e no controle.
Ao se inscrever, você aceita nossos Política de Privacidade. Você pode cancelar a inscrição a qualquer momento. Nunca vendemos seus dados.